A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report

• Main Authors: İlknur Bağrul (Author), Serdar Ceylaner (Author), Yasemin Tasci Yildiz (Author), Serife Tuncez (Author), Elif Arslanoglu Aydin (Author), Esra Bağlan (Author), Semanur Ozdel (Author), Mehmet Bülbül (Author)
• Format: Book
• Published: BMC, 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This sy...